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80 积分 2025-02-26 加入
A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy
9个月前
已完结
Third-generation sequencing: A novel tool detects complex variants in the α-thalassemia gene
9个月前
已完结
A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)
9个月前
已完结
Exon Skipping Caused by Noncanonical Splicing Mutation in PRDX3‐Related Spinocerebellar Ataxia
10个月前
已完结
Combined genetic screening and traditional biochemical screening to optimize newborn screening systems
10个月前
已完结
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease
10个月前
已完结
Diagnosis and phenotypic classification of Wilson disease1
10个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
11个月前
已完结
The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China
1年前
已完结
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